Sleep Problems in Children with ASD and Gene Disrupting Mutations

Area of Science:

• Neuroscience
• Genetics
• Developmental Psychology

Background:

• Sleep difficulties are common in autism spectrum disorder (ASD).
• The relationship between sleep problems and genetic causes of ASD is not well understood.
• Previous studies suggest significant sleep issues in children with ASD-associated de novo likely gene disrupting (dnLGD) mutations in genes like CHD8, DYRK1A, and ADNP.

Purpose of the Study:

• To investigate sleep problems in individuals with dnLGD mutations to understand etiological contributions to ASD and sleep.
• To characterize sleep difficulties across different genetic subgroups within ASD.

Main Methods:

• Analysis of sleep problem data from 2886 families of children with ASD (ages 3-28 years) using medical history interviews.
• Confirmatory factor analyses comparing children with dnLGD mutations and idiopathic ASD (NON).
• Exploratory analysis of sleep patterns in specific genetic subgroups (ADNP, CHD8, DYRK1A).

Main Results:

• Four sleep domains were identified: sleep onset, breathing issues, nighttime awakenings, and daytime tiredness, with sleep onset being significant for both dnLGD and NON groups.
• Internalizing behavioral problems and lower cognitive scores were associated with increased sleep problems in children with ASD.
• Internalizing problems specifically correlated with increased nighttime awakenings in the dnLGD group. Unique sleep issue patterns were observed in ADNP, CHD8, and DYRK1A subgroups.

Conclusions:

• Sleep problems in ASD are influenced by genetic factors and behavioral/cognitive profiles.
• Internalizing behaviors are a significant predictor of sleep difficulties, particularly nighttime awakenings, in genetically defined ASD subgroups.
• Considering genetically defined subgroups is crucial for effectively addressing sleep problems in children with ASD.